Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6382781C>G , CM000674.2:g.6382781C>G | GRCh38 |
| NC_000012.11:g.6491947C>G , CM000674.1:g.6491947C>G | GRCh37 |
| NC_000012.10:g.6362208C>G | NCBI36 |
| NG_033039.1:g.12414C>G | |
| NG_033039.2:g.12414C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001270987.1:c.40-1807C>G | NP_001257916.1:n.40-1807C>G |
| NM_001270987.2:c.40-1807C>G | NP_001257916.1:n.40-1807C>G |
| ENST00000539925.5:c.40-1807C>G | ENSP00000440875.1:n.40-1807C>G |
| ENST00000542830.5:n.266-1807C>G | |
| ENST00000546296.5:n.551-1807C>G |